renal/urinary system
N |
• homozygotes show normal urinary excretion of amino acids, total protein, and creatinine relative to control littermates
• although homozygotes display a clear tendency towards an increased amino acid-to-creatinine ratio for most free amino acids analyzed (e.g. glycine and leucine excretion rates are increased by 35% and 31%, respectively), only the ratio for leucine reaches the level of significance in male homozygotes, indicating that renal excretion of amino acids and amino acid nitrogen is only modestly affected
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• after in vivo administration of tracer dipeptides (i.e. the fluorophore-conjugated dipeptide d-Ala-Lys-AMCA and the radiolabeled dipeptide d-[3H]Phe-Ala), homozygotes show a severe reduction in the accumulation of hydrolysis-resistant dipeptides in the kidney, indicating impaired tubule reabsorption of peptide-bound amino acids
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• homozygotes display impaired tubular reabsorption of peptide-bound amino acids in the kidney
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homeostasis/metabolism
• homozygotes display impaired tubular reabsorption of peptide-bound amino acids in the kidney
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